"Ambry Genetics"[submitter] AND "CLCN2"[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1319023	NM_004366.6(CLCN2):c.2683G>A (p.Asp895Asn)	CLCN2 (D851N +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2325514	NM_004366.6(CLCN2):c.2680G>A (p.Asp894Asn)	CLCN2 (D850N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1407525	NM_004366.6(CLCN2):c.2642G>A (p.Arg881His)	CLCN2 (R852H +3 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy with mild cerebellar ataxia and white matter edema +4 more	GUncertain significance
Select item 3145409	NM_004366.6(CLCN2):c.2623C>A (p.Leu875Ile)	CLCN2 (L846I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267558	NM_004366.6(CLCN2):c.2554C>T (p.Pro852Ser)	CLCN2 (P808S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298949	NM_004366.6(CLCN2):c.2515A>G (p.Ile839Val)	CLCN2 (I795V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2662140	NM_004366.6(CLCN2):c.2507G>A (p.Arg836Gln)	CLCN2 (R792Q +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2271642	NM_004366.6(CLCN2):c.2480T>C (p.Ile827Thr)	CLCN2 (I810T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2813883	NM_004366.6(CLCN2):c.2431T>C (p.Ser811Pro)	CLCN2 (S767P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2440122	NM_004366.6(CLCN2):c.2364C>G (p.Cys788Trp)	CLCN2 (C744W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2616985	NM_004366.6(CLCN2):c.2357G>A (p.Ser786Asn)	CLCN2 (S769N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256697	NM_004366.6(CLCN2):c.2356A>G (p.Ser786Gly)	CLCN2 (S769G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2201817	NM_004366.6(CLCN2):c.2345C>T (p.Pro782Leu)	CLCN2 (P765L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2510241	NM_004366.6(CLCN2):c.2293G>A (p.Glu765Lys)	CLCN2 (E748K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2147427	NM_004366.6(CLCN2):c.2291G>C (p.Gly764Ala)	CLCN2 (G747A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1938550	NM_004366.6(CLCN2):c.2285T>C (p.Leu762Pro)	CLCN2 (L718P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2332431	NM_004366.6(CLCN2):c.2258G>C (p.Arg753Pro)	CLCN2 (R709P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145407	NM_004366.6(CLCN2):c.2230T>C (p.Cys744Arg)	CLCN2 (C727R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1394236	NM_004366.6(CLCN2):c.2174G>A (p.Arg725Gln)	CLCN2 (R725Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2402345	NM_004366.6(CLCN2):c.2149G>A (p.Ala717Thr)	CLCN2 (A717T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3145406	NM_004366.6(CLCN2):c.2057C>T (p.Ala686Val)	CLCN2 (A642V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2045201	NM_004366.6(CLCN2):c.2054C>A (p.Pro685Gln)	CLCN2 (P641Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2510168	NM_004366.6(CLCN2):c.1981T>C (p.Ser661Pro)	CLCN2 (S644P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2067460	NM_004366.6(CLCN2):c.1954C>T (p.Arg652Cys)	CLCN2 (R635C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2459990	NM_004366.6(CLCN2):c.1946T>C (p.Met649Thr)	CLCN2 (M649T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1028738	NM_004366.6(CLCN2):c.1934G>A (p.Arg645Gln)	CLCN2 (R601Q +2 more)	Single nucleotide variant (missense variant)	Familial hyperaldosteronism type II +1 more	GUncertain significance
Select item 2469274	NM_004366.6(CLCN2):c.1933C>T (p.Arg645Trp)	CLCN2 (R645W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359189	NM_004366.6(CLCN2):c.1829G>A (p.Arg610Gln)	CLCN2 (R593Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517755	NM_004366.6(CLCN2):c.1826G>A (p.Gly609Asp)	CLCN2 (G609D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267556	NM_004366.6(CLCN2):c.1816A>G (p.Arg606Gly)	CLCN2 (R562G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1495010	NM_004366.6(CLCN2):c.1793G>A (p.Arg598Gln)	CLCN2 (R581Q +2 more)	Single nucleotide variant (missense variant)	Familial hyperaldosteronism type II +4 more	GUncertain significance
Select item 2290259	NM_004366.6(CLCN2):c.1609G>A (p.Ala537Thr)	CLCN2 (A520T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1335552	NM_004366.6(CLCN2):c.1600G>C (p.Val534Leu)	CLCN2 (V490L +2 more)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 11 +4 more	GUncertain significance
Select item 3145401	NM_004366.6(CLCN2):c.1543G>C (p.Val515Leu)	CLCN2 (V515L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1208813	NM_004366.6(CLCN2):c.1517C>T (p.Ala506Val)	CLCN2 (A462V +2 more)	Single nucleotide variant (missense variant)	Familial hyperaldosteronism type II +4 more	GUncertain significance
Select item 3145400	NM_004366.6(CLCN2):c.1483G>T (p.Val495Leu)	CLCN2 (V451L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145399	NM_004366.6(CLCN2):c.1460C>T (p.Thr487Met)	CLCN2 (T470M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474486	NM_004366.6(CLCN2):c.1447G>A (p.Asp483Asn)	CLCN2 (D439N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1599602	NM_004366.6(CLCN2):c.1244T>G (p.Leu415Arg)	CLCN2 (L371R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2406173	NM_004366.6(CLCN2):c.1228G>A (p.Gly410Ser)	CLCN2 (G410S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2531173	NM_004366.6(CLCN2):c.1208A>G (p.Asn403Ser)	CLCN2 (N359S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145398	NM_004366.6(CLCN2):c.1142C>G (p.Pro381Arg)	CLCN2 (P381R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 772363	NM_004366.6(CLCN2):c.1141C>G (p.Pro381Ala)	CLCN2 (P337A +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 3267557	NM_004366.6(CLCN2):c.1117C>G (p.Leu373Val)	CLCN2 (L329V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145397	NM_004366.6(CLCN2):c.1028G>A (p.Arg343Gln)	CLCN2 (R343Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1966060	NM_004366.6(CLCN2):c.992G>C (p.Ser331Thr)	CLCN2 (S287T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 779808	NM_004366.6(CLCN2):c.989C>T (p.Ala330Val)	CLCN2 (A286V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3145412	NM_004366.6(CLCN2):c.817C>T (p.Arg273Trp)	CLCN2 (R229W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559988	NM_004366.6(CLCN2):c.815T>C (p.Val272Ala)	CLCN2 (V228A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2440121	NM_004366.6(CLCN2):c.758C>T (p.Ala253Val)	CLCN2 (A209V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 809577	NM_004366.6(CLCN2):c.719T>C (p.Leu240Pro)	CLCN2 (L196P +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1328299	NM_004366.6(CLCN2):c.673C>T (p.Leu225Phe)	CLCN2 (L181F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 732710	NM_004366.6(CLCN2):c.634G>A (p.Ala212Thr)	CLCN2 (A212T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2521344	NM_004366.6(CLCN2):c.629A>G (p.His210Arg)	CLCN2 (H210R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267560	NM_004366.6(CLCN2):c.499A>G (p.Met167Val)	CLCN2 (M123V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556058	NM_004366.6(CLCN2):c.453C>G (p.Phe151Leu)	CLCN2 (F107L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267559	NM_004366.6(CLCN2):c.410G>T (p.Trp137Leu)	CLCN2 (W137L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1315589	NM_004366.6(CLCN2):c.370C>T (p.Arg124Trp)	CLCN2 (R124W +1 more)	Single nucleotide variant (missense variant)	See cases +2 more	GConflicting classifications of pathogenicity
Select item 3145410	NM_004366.6(CLCN2):c.322A>G (p.Met108Val)	CLCN2 (M108V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2368265	NM_004366.6(CLCN2):c.206G>T (p.Cys69Phe)	CLCN2 (C69F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145405	NM_004366.6(CLCN2):c.202C>T (p.Arg68Cys)	CLCN2 (R68C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145404	NM_004366.6(CLCN2):c.199A>G (p.Ser67Gly)	CLCN2 (S67G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516052	NM_004366.6(CLCN2):c.196C>T (p.Arg66Trp)	CLCN2 (R66W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1657311	NM_004366.6(CLCN2):c.74G>A (p.Arg25Gln)	CLCN2 (R25Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 64